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dbVar

Database of genomic structural variation

nsv6112702

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,437,424

Description:GRCh37/hg19 Xq22.3-23(chrX:108168780-109606201)x0 AND not provided

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1839 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):108,925,550-110,362,973

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112702	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	108,925,550	110,362,973
nsv6112702	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	108,168,780	109,606,201

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649924	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001537894.4, VCV001180512.4	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17649924	Remapped	Perfect	NC_000023.11:g.108 925550_110362973de l	GRCh38.p12	First Pass	NC_000023.11	ChrX	108,925,550	110,362,973
nssv17649924	Submitted genomic		NC_000023.10:g.108 168780_109606201de l	GRCh37 (hg19)		NC_000023.10	ChrX	108,168,780	109,606,201

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649924	GRCh37: NC_000023.10:g.108168780_109606201del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001537894.4, VCV001180512.4	0

No genotype data were submitted for this variant

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